Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure

SUMMARY: BACKGROUND AND OBJECTIVES: In a single-center renal clinic, we have established routine mutation testing to diagnose UMOD-associated kidney disease (UAKD), an autosomal dominant disorder typically characterized by gout, hyperuricemia, and renal failure in the third to sixth decades. DESIGN,...

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Main Authors: Smith, Graham D., Robinson, Caroline, Stewart, Andrew P., Edwards, Emily L., Karet, Hannah I., Norden, Anthony G. W., Sandford, Richard N., Karet Frankl, Fiona E.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2011
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3255364/
https://ncbi.nlm.nih.gov/pubmed/22034507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.06820711
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